Clinical presentation and need for treatment of a cohort of subjects accessing to a mental illness prevention service.

Outreaching activities decrease prognostic accuracy of at-risk mental state defining tools, over-attracting subjects who are not at increased risk of mental illness. The setting was a mental illness primary indicated prevention outpatients service embedded within the Psychiatry Unit of Padua University Hospital, Italy. Help-seeking patients accessing the service between January 2018 and December 2018 were evaluated with validated tools assessing functioning, at-risk mental state, schizotypal personality features, depressive and anxious symptoms, together with medical and family history collection. The primary outcome was the prevalence of drop in functioning at presentation according to the Social and Occupational Functioning Assessment Scale (SOFAS). Secondary outcomes were diagnoses according to DSM-5 criteria and meeting criteria for at-risk mental state. Fifty-nine patients accessed the service, mean age was 18.8 (2.12) years old, 54.2% were females. Virtually all subjects (97.7%) had a drop in functioning. Baseline primary diagnoses were depressive episode in 33%, anxiety disorder in 21%, personality disorder in 17%, adjustment disorder 9%, conduct disorder 7%, schizophrenia spectrum disorder 5%, bipolar disorder 5%, eating disorder in 1.7%, dissociative disorder 1.7%. Overall, 59.1% met at-risk mental state criteria. Lower functioning was associated with anxious symptoms (p=0.031), a family history of mental illness (p=0.045) and of suicide (p=0.042), and schizotypal personality traits (p=0.036). Subjects accessing a prevention service embedded within the mental health department already present a trans-diagnostic drop in functioning, mainly due to a non-psychotic mental disorder, with at-risk mental state in one patient out of two, and schizophrenia or bipolar disorder already present in only 10% of subjects. Prevention service within mental health facility setting appears to properly detect subjects in need of treatment with a drop in functioning, at risk of developing severe mental illness, without any outreaching activity in the general population.

Theory of Mind and social functioning in schizophrenia: correlation with figurative language abnormalities, clinical symptoms and general intelligence.

AIM: Over past few decades, studies displayed Theory of Mind (ToM) as a system, including cognitive and affective features, rather than an unitary process. Within domains defining social cognition, ToM stands for the best predictor of poor social functioning in schizophrenia. The current study aimed to explore competence in ToM tasks, in metaphorical and idiomatic language identification tasks and in a conversational rules observance test, as well as relationship with social functioning, in a group of outpatients suffering from schizophrenia. METHODS.: 30 outpatients diagnosed with schizophrenia and 24 healthy subjects have been recruited. Both groups underwent TIB as premorbid IQ evaluation, PANSS, Theory of Mind Picture Sequencing Task, a metaphors and idiomatic expressions comprehension test and a conversational test. Social functioning was assessed with PSP. Results.Mean values of premorbid IQ showed no significant difference between patients and control group. In ToM and pragmatic competence tasks, differences between groups resulted in high significance, due to patients' lower performance. A correlation between metaphors and idiomatic expressions comprehension and second order false beliefs was detected. PSP showed a correlation with PANSS and cognitive-ToM, whereas leaving aside affective-ToM. CONCLUSIONS: Results showed how people affected with schizophrenia, in stable clinical condition, do have clear impairments in ToM and figurative language comprehension assignments. In our theoretical framework, correlation arisen between cognitive-ToM, pragmatic deficits, clinical status and social functioning level suggests usefulness of rehabilitative interventions to recover metacognitive functions and pragmatic abilities, in order to reduce social disability in schizophrenia.

Mutations in PMCA2 and hereditary deafness: a molecular analysis of the pump defect.

The inner ear converts sound waves into hearing signals through the mechanoelectrical transduction (MET) process. Deflection of the stereocilia bundle of hair cells causes the opening of channels that allow the entry of endolymph K(+) and Ca(2+). Ca(2+) that enters is crucial to the hearing process and is exported to the endolymph by the plasma membrane Ca(2+) pump (isoform PMCA2w/a): disturbances of the balance between Ca(2+) penetration and ejection, e.g. by pump mutations, generate deafness. Hearing loss caused by PMCA defects is frequently exacerbated by mutations in cadherin 23, a single pass stereociliar Ca(2+) binding protein that forms the tip links which permit the deflection of the stereocilia bundle and thus the opening of the MET channels. The PMCA2w/a pump ejects Ca(2+) to the endolymph even in the absence of the natural activator calmodulin. This satisfies the special Ca(2+) homeostasis requirements of the stereocilia/endolymph system. Here we have analyzed a mice and a human previously described pump mutant. The human mutant only exacerbated the deafness produced by a cadherin 23 mutation. The murine mutant overexpressed in model cells displayed an evident defect both in the basal activity of the pump and in the long range ejection of Ca(2+), the human mutant instead failed to impair the Ca(2+) ejection by the pump.